基因名称(Gene Name)
SARDH DMGDHL1
免疫原
Synthesized peptide derived from human SARDH AA range: 279-329
特异性
This antibody detects endogenous levels of SARDH at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008],
功能
catalytic activity:Sarcosine + acceptor + H(2)O = glycine + formaldehyde + reduced acceptor.,cofactor:Binds 1 FAD covalently per monomer.,disease:Defects in SARDH are a ause of sarcosinemia [MIM:268900]. Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28'000 to 1:350'000 in newborn screening programs. Sarcosinemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner.,pathway:Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.,similarity:Belongs to the gcvT family.,
